AutismKB 2.0

View SNVs/InDels


Entrez ID Gene Symbol SNP name Chr Position ref alt Evidence Number Total Number of Evidence Result
GWAS Low-Scale Genetic Association Studies NGS de novo Mutation Studies NGS Mosaic Mutation Studes NGS Other Studies Low-Scale Gene Studies
AutG4204MECP2rs2734647 X 153292180 T C 0 1 0 0 0 0 1 Positive
AutG3142HLXrs2738756 - - - - 0 1 0 0 0 0 1 Negative
AutG5743PTGS2rs2745557 - - - - 0 1 0 0 0 0 1 Positive
AutG2099ESR1rs2747648 - - - - 0 1 0 0 0 0 1 Positive
-rs2749698 - - - - 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs2764664 1 57741163 T C 0 1 0 0 0 0 1 Positive
AutG3356HTR2Ars2770296 1 47440560 C C 0 1 0 0 0 0 1 Negative
AutG4843NOS2rs2779248 1 26127832 T C 0 1 0 0 0 0 1 Positive
-rs2784250 - - - - 0 1 0 0 0 0 1 Negative
-rs2784253 - - - - 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs2786604 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs2786610 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs2786613 - - - - 0 1 0 0 0 0 1 Positive
AutG84976DISP1rs2789910 - - - - 0 1 0 0 0 0 1 Negative
-rs2789949 - - - - 0 1 0 0 0 0 1 Negative
AutG84976DISP1rs2789958 - - - - 0 1 0 0 0 0 1 Negative
AutG1621DBHrs2797849 9 136501941 G C 0 1 0 0 0 0 1 Negative
AutG1621DBHrs2797853 9 136512515 T A 0 1 0 0 0 0 1 Negative
AutG2555GABRA2rs279844 4 46329655 A A 0 1 0 0 0 0 1 Positive
AutG2555GABRA2rs279858 4 46314593 T A 0 1 0 0 0 0 1 Positive

Page Counts: 41/584  
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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018